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Abnormal ear physiology

MedGen UID:
1631982
•Concept ID:
C4703492
•
Disease or Syndrome
HPO: HP:0031704

Definition

Any functional anomaly of the ear. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal ear physiology

Professional guidelines

PubMed

Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.
Mustillo PJ, Sullivan KE, Chinn IK, Notarangelo LD, Haddad E, Davies EG, de la Morena MT, Hartog N, Yu JE, Hernandez-Trujillo VP, Ip W, Franco J, Gambineri E, Hickey SE, Varga E, Markert ML
J Clin Immunol 2023 Feb;43(2):247-270. Epub 2023 Jan 17 doi: 10.1007/s10875-022-01418-y. PMID: 36648576Free PMC Article
Splicing in the pathogenesis, diagnosis and treatment of ciliopathies.
Wheway G, Lord J, Baralle D
Biochim Biophys Acta Gene Regul Mech 2019 Nov-Dec;1862(11-12):194433. Epub 2019 Nov 4 doi: 10.1016/j.bbagrm.2019.194433. PMID: 31698098
Advances in Understanding, Diagnosis, and Treatment of Tinnitus.
Tang D, Li H, Chen L
Adv Exp Med Biol 2019;1130:109-128. doi: 10.1007/978-981-13-6123-4_7. PMID: 30915704

Recent clinical studies

Etiology

Classification and Current Management of Inner Ear Malformations.
Sennaroğlu L, Bajin MD
Balkan Med J 2017 Sep 29;34(5):397-411. Epub 2017 Aug 25 doi: 10.4274/balkanmedj.2017.0367. PMID: 28840850Free PMC Article
Etiology and genes.
Matsunaga T
Adv Otorhinolaryngol 2014;75:2-8. Epub 2013 Oct 11 doi: 10.1159/000350491. PMID: 24135340
Microtia: epidemiology and genetics.
Luquetti DV, Heike CL, Hing AV, Cunningham ML, Cox TC
Am J Med Genet A 2012 Jan;158A(1):124-39. Epub 2011 Nov 21 doi: 10.1002/ajmg.a.34352. PMID: 22106030Free PMC Article
Incisionless otoplasty.
Fritsch MH
Facial Plast Surg 2004 Nov;20(4):267-70. doi: 10.1055/s-2005-865384. PMID: 15778913
The preauricular sinus: a review of its clinical presentation, treatment, and associations.
Scheinfeld NS, Silverberg NB, Weinberg JM, Nozad V
Pediatr Dermatol 2004 May-Jun;21(3):191-6. doi: 10.1111/j.0736-8046.2004.21301.x. PMID: 15165194

Diagnosis

Audiometry.
Kaga K
Adv Otorhinolaryngol 2014;75:20-3. Epub 2013 Oct 11 doi: 10.1159/000350596. PMID: 24135344
Microtia: epidemiology and genetics.
Luquetti DV, Heike CL, Hing AV, Cunningham ML, Cox TC
Am J Med Genet A 2012 Jan;158A(1):124-39. Epub 2011 Nov 21 doi: 10.1002/ajmg.a.34352. PMID: 22106030Free PMC Article
Branchio-oto-renal syndrome.
Garg A, Wadhera R, Gulati SP, Kumar A
J Assoc Physicians India 2008 Nov;56:904-5. PMID: 19263692
Primary ciliary dyskinesia.
Bush A
Acta Otorhinolaryngol Belg 2000;54(3):317-24. PMID: 11082768
Tympanometry.
Shanks JE
Ear Hear 1984 Sep-Oct;5(5):268-80. doi: 10.1097/00003446-198409000-00003. PMID: 6542036

Therapy

Advances in Understanding, Diagnosis, and Treatment of Tinnitus.
Tang D, Li H, Chen L
Adv Exp Med Biol 2019;1130:109-128. doi: 10.1007/978-981-13-6123-4_7. PMID: 30915704
Cochlear synaptopathy in acquired sensorineural hearing loss: Manifestations and mechanisms.
Liberman MC, Kujawa SG
Hear Res 2017 Jun;349:138-147. Epub 2017 Jan 10 doi: 10.1016/j.heares.2017.01.003. PMID: 28087419Free PMC Article
A Mouse Model for Atopic Dermatitis Using Topical Application of Vitamin D3 or of Its Analog MC903.
Moosbrugger-Martinz V, Schmuth M, Dubrac S
Methods Mol Biol 2017;1559:91-106. doi: 10.1007/978-1-4939-6786-5_8. PMID: 28063040
Otitis media.
Schilder AG, Chonmaitree T, Cripps AW, Rosenfeld RM, Casselbrant ML, Haggard MP, Venekamp RP
Nat Rev Dis Primers 2016 Sep 8;2(1):16063. doi: 10.1038/nrdp.2016.63. PMID: 27604644Free PMC Article
Primary Ciliary Dyskinesia.
Knowles MR, Zariwala M, Leigh M
Clin Chest Med 2016 Sep;37(3):449-61. Epub 2016 Jun 30 doi: 10.1016/j.ccm.2016.04.008. PMID: 27514592Free PMC Article

Prognosis

Management of Congenital Auricular Anomalies.
Joukhadar N, McKee D, Caouette-Laberge L, Bezuhly M
Plast Reconstr Surg 2020 Aug;146(2):205e-216e. doi: 10.1097/PRS.0000000000006997. PMID: 32740598
Update on Usher syndrome.
Saihan Z, Webster AR, Luxon L, Bitner-Glindzicz M
Curr Opin Neurol 2009 Feb;22(1):19-27. doi: 10.1097/wco.0b013e3283218807. PMID: 19165952
Incisionless otoplasty.
Fritsch MH
Facial Plast Surg 2004 Nov;20(4):267-70. doi: 10.1055/s-2005-865384. PMID: 15778913
Tympanometry.
Onusko E
Am Fam Physician 2004 Nov 1;70(9):1713-20. PMID: 15554489
Branchio-oto-renal syndrome.
Rodríguez Soriano J
J Nephrol 2003 Jul-Aug;16(4):603-5. PMID: 14696767

Clinical prediction guides

Classification and Current Management of Inner Ear Malformations.
Sennaroğlu L, Bajin MD
Balkan Med J 2017 Sep 29;34(5):397-411. Epub 2017 Aug 25 doi: 10.4274/balkanmedj.2017.0367. PMID: 28840850Free PMC Article
Mowat-Wilson syndrome.
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article
Incisionless otoplasty.
Fritsch MH
Facial Plast Surg 2004 Nov;20(4):267-70. doi: 10.1055/s-2005-865384. PMID: 15778913
Tympanometry.
Onusko E
Am Fam Physician 2004 Nov 1;70(9):1713-20. PMID: 15554489
Perilymphatic fistulas.
Martinez MT, Gianoli GJ
J La State Med Soc 1994 Feb;146(2):43-6. PMID: 8195664

Recent systematic reviews

Comprehensive investigation of the phenotype of MEF2C-related disorders in human patients: A systematic review.
Cooley Coleman JA, Sarasua SM, Boccuto L, Moore HW, Skinner SA, DeLuca JM
Am J Med Genet A 2021 Dec;185(12):3884-3894. Epub 2021 Jun 29 doi: 10.1002/ajmg.a.62412. PMID: 34184825
Systemic Aminoglycosides-Induced Vestibulotoxicity in Humans.
Van Hecke R, Van Rompaey V, Wuyts FL, Leyssens L, Maes L
Ear Hear 2017 Nov/Dec;38(6):653-662. doi: 10.1097/AUD.0000000000000458. PMID: 28650850
Cochlear Implantation in Inner Ear Malformations: Systematic Review of Speech Perception Outcomes and Intraoperative Findings.
Farhood Z, Nguyen SA, Miller SC, Holcomb MA, Meyer TA, Rizk HG
Otolaryngol Head Neck Surg 2017 May;156(5):783-793. Epub 2017 Apr 4 doi: 10.1177/0194599817696502. PMID: 28374626
Audiovestibular Function Deficits in Vestibular Schwannoma.
von Kirschbaum C, Gürkov R
Biomed Res Int 2016;2016:4980562. Epub 2016 Sep 22 doi: 10.1155/2016/4980562. PMID: 27747231Free PMC Article
Auditory and vestibular dysfunctions in systemic sclerosis: literature review.
Rabelo MB, Corona AP
Codas 2014 Sep-Oct;26(5):337-42. doi: 10.1590/2317-1782/20140201475. PMID: 25388064

Supplemental Content

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    Clinical resources

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